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Genetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: "Ensuring that all patients who present with a suspected rare disease receive a diagnosis within one year if their disorder is documented in the medical literature". 

The diagnostic odyssey for people living with rare diseases (PLWRD) is often prolonged for myriad reasons including an initial failure to consider rare disease and challenges to systemically and systematically identifying and tracking undiagnosed diseases across the diagnostic journey.

Children living with a rare disease often endure a lengthy journey to diagnosis, commonly referred to as a diagnostic odyssey. This journey significantly impacts their physical, mental and financial wellbeing, in addition to that of their families. The diagnostic odyssey is often characterised by anxiety and stress surrounding the uncertainty of the future. This is experienced by the patient as well as by the family.

Recently, researchers from The Kids Research Institute Australia, Perth Children’s Hospital and The University of Western Australia contributed to three major international publications, collectively reinforcing rare diseases as a critical, community-wide health priority.

The Kids Research Institute Australia is proud to be a part of the Rare Care Comprehensive Centre (RCCC) for children with rare and undiagnosed disease, made possible thanks to one of Western Australia’s biggest philanthropic gifts.

Research that screens novel genetic variants identified in disease will be fast-tracked by a funding boost, offering new hope of an early diagnosis for families of children with a rare or undiagnosed genetic disease.

One of the researchers who helped crack the code of 10-year-old Northam girl Charlotte Patterson’s incredibly rare disease has received State Government funding that will allow her to use the same methods to rapidly assess the cases of hundreds more patients living with undiagnosed disease.